Variant report

Variant	rs73838354
Chromosome Location	chr3:52354588-52354589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52331076..52332761-chr3:52353981..52355640,2	K562	blood:
2	chr3:52311241..52313556-chr3:52354357..52356115,2	K562	blood:
3	chr3:52311241..52315231-chr3:52353028..52356165,5	K562	blood:

Variant related genes	Relation type
ENSG00000164091	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3852064	0.87[AFR][1000 genomes]
rs3890123	1.00[AMR][1000 genomes]
rs55971019	1.00[AMR][1000 genomes]
rs56898787	1.00[AMR][1000 genomes]
rs56961704	1.00[AMR][1000 genomes]
rs58781613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60499166	1.00[AMR][1000 genomes]
rs60997031	1.00[AMR][1000 genomes]
rs61734628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6766038	1.00[AMR][1000 genomes]
rs73835766	1.00[AMR][1000 genomes]
rs73837049	1.00[AMR][1000 genomes]
rs73837599	1.00[AMR][1000 genomes]
rs7641255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
3	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
4	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
5	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
7	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52328200-52366000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:52328800-52367600	Weak transcription	Brain Substantia Nigra	brain
3	chr3:52330400-52378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:52344600-52378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:52349000-52357200	Weak transcription	HepG2	liver
6	chr3:52350600-52362400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:52352000-52356200	Weak transcription	K562	blood
8	chr3:52352000-52356800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:52352000-52360600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:52352000-52361400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:52352000-52362200	Weak transcription	Thymus	Thymus
12	chr3:52352000-52365000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:52352000-52365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:52352000-52365800	Weak transcription	Aorta	Aorta
15	chr3:52352000-52367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:52352000-52379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:52352200-52357600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:52352200-52357600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:52352200-52357800	Weak transcription	Ovary	ovary
20	chr3:52352200-52362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:52352200-52364800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:52352200-52370800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:52352200-52379000	Weak transcription	Colonic Mucosa	Colon
24	chr3:52352200-52382000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:52352200-52384600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:52352400-52357400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:52352400-52360000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:52352400-52360800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:52352400-52361200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:52352400-52364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52352400-52364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:52352400-52365200	Weak transcription	Placenta	Placenta
33	chr3:52352400-52366000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:52352400-52366000	Weak transcription	Adipose Nuclei	Adipose
35	chr3:52352400-52366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:52352600-52355600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:52352600-52356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:52352600-52356400	Weak transcription	Primary B cells from cord blood	blood
39	chr3:52352600-52356800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:52352600-52357600	Weak transcription	Lung	lung
41	chr3:52352600-52357600	Weak transcription	Right Ventricle	heart
42	chr3:52352600-52357800	Weak transcription	Fetal Heart	heart
43	chr3:52352600-52362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:52352600-52362600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:52352600-52365400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:52352600-52373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:52352600-52379400	Weak transcription	Pancreas	Pancrea
48	chr3:52352800-52356800	Weak transcription	Spleen	Spleen
49	chr3:52352800-52357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:52352800-52365800	Weak transcription	Brain Anterior Caudate	brain

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